79289-5

LOINC 2.82

Creatine and guanidinoacetate panel - Serum or Plasma

Cr and GAA Pnl SerPl

Definition

  • Measurements of guanidinoacetate (GAA) and creatine (Cr) in serum or plasma are performed for biochemical diagnosis of Guanidinoacetate methyltransferase (GAMT) deficiency, an inherited metabolic disorder of creatine metabolism that is characterized by mental retardation, developmental delay or regression, mental retardation, expressive and cognitive speech delay, and intractable seizures and movement disturbances.[OMIM: 612736] [PMID: 15234334]

Component

  • Creatine & guanidinoacetate panel

Specimen / system

  • Ser/Plas

Class

  • PANEL.CHEM

Property

  • -

Scale

  • Qn

Related names

  • Chemistry; Cr and GAA Pnl; GAA; glycocyamine; guanidinoacetic acid; guanidoacetic acid; Pan; PANEL.CHEMISTRY; Panl; Pl; Plasma; Plsm; Pnl; Point in time; QNT; Quan; Quant; Quantitative; Random; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR

Index terms

  • Chemistry
  • Cr and GAA Pnl
  • Creatine & guanidinoacetate panel
  • GAA
  • glycocyamine
  • guanidinoacetic acid
  • guanidoacetic acid
  • Pan
  • PANEL.CHEMISTRY
  • Panl
  • Pl
  • Plasma
  • Plsm
  • Pnl
  • Point in time
  • QNT
  • Quan
  • Quant
  • Quantitative
  • Random
  • SerP
  • SerPl
  • SerPlas
  • Serum
  • Serum or plasma
  • SR